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Y. -Y. Xu et al.
ALLERGY (2012)
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency
A. Bygum et al.
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SERPING1 mutations in 59 families with hereditary angioedema
Alberto Lopez-Lera et al.
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O Roche et al.
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O Roche et al.
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HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene
L Kalmar et al.
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Lajos Kalmar et al.
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PA Frischmeyer et al.
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Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema
E Pappalardo et al.
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Primary immunodeficiency diseases in Norway
A Stray-Pedersen et al.
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Detection of C1 inhibitor mutations in patients with hereditary angioedema
BL Zuraw et al.
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